Start Date
April 2026
Location
3rd floor - Library
Abstract
Malan Syndrome is a rare genetic overgrowth disorder caused by pathogenic variants in the NFIX gene, typically identified through DNA-based sequencing methods. While these approaches are effective for detecting variants, they do not always show how those mutations affect gene expression at the RNA level, which can limit our understanding of disease mechanisms. In this study, we explored whether RNA-based analysis could be used as a complementary approach for diagnosing and better characterizing Malan Syndrome. Patient sequencing data were analyzed using Integrative Genomics Viewer (IGV) to manually identify variants and evaluate transcript-level changes. We also used Franklin by Genoox and IBR-based resources to determine whether identified variants were likely pathogenic. Our analysis focused on identifying RNA abnormalities such as exon skipping, intron retention, altered exon usage, and differences in allele-specific expression that may not be detected through DNA sequencing alone. Overall, this work aims to determine whether RNA sequencing can improve diagnostic accuracy and provide a clearer understanding of how different NFIX variants contribute to Malan Syndrome.
Evaluating RNA Sequencing as a Diagnostic Tool for Malan Syndrome and NFIX Variant Interpretation
3rd floor - Library
Malan Syndrome is a rare genetic overgrowth disorder caused by pathogenic variants in the NFIX gene, typically identified through DNA-based sequencing methods. While these approaches are effective for detecting variants, they do not always show how those mutations affect gene expression at the RNA level, which can limit our understanding of disease mechanisms. In this study, we explored whether RNA-based analysis could be used as a complementary approach for diagnosing and better characterizing Malan Syndrome. Patient sequencing data were analyzed using Integrative Genomics Viewer (IGV) to manually identify variants and evaluate transcript-level changes. We also used Franklin by Genoox and IBR-based resources to determine whether identified variants were likely pathogenic. Our analysis focused on identifying RNA abnormalities such as exon skipping, intron retention, altered exon usage, and differences in allele-specific expression that may not be detected through DNA sequencing alone. Overall, this work aims to determine whether RNA sequencing can improve diagnostic accuracy and provide a clearer understanding of how different NFIX variants contribute to Malan Syndrome.
